Select Publications
Conference Papers
2021, 'T cell dysfunction in Activated P13K delta Syndrome explained by cell intrinsic and extrinsic components', in JOURNAL OF IMMUNOLOGY, AMER ASSOC IMMUNOLOGISTS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713665800408&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2020, 'The effects of germline STAT3-activating mutations from autoimmunity and lymphoid malignancy on mouse and human T cells', in JOURNAL OF IMMUNOLOGY, AMER ASSOC IMMUNOLOGISTS, HI, Honolulu, presented at Annual Meeting of the American-Association-of-Immunologists - Immunology 2020, HI, Honolulu, 08 May 2020 - 12 May 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000589972401141&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2020, 'Regulation Of Humoral Immunity By Cytokine-Mediated STAT Signalling - Lessons From Inborn Errors Of Immunity', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CO, Denver, pp. S43 - S43, presented at Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference, CO, Denver, 02 April 2020 - 05 April 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000540191100061&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2020, 'The Natural History Of STAT3 GOF Syndrome - The Range Of Clinical Manifestations And Treatment Options', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CO, Denver, pp. S144 - S146, presented at Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference, CO, Denver, 02 April 2020 - 05 April 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000540191100211&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2020, 'Three Copies of Four Interferon Receptor Genes Underlie Type I Interferonopathies In Down Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CO, Denver, pp. S9 - S9, presented at Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference, CO, Denver, 02 April 2020 - 05 April 2020, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000540191100013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'A New Genetic Disorder Predispose Mendelian Susceptibility to Mycobacterial Diseases', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S140 - S141, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'A Short-Term Treatment Summary Using M-TOR Inhibitors in Patients with Germline PIK3CD Mutations: Prospects for Future', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S164 - S164, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100044&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Defects in CD8 Cytolysis in Immunodeficiencies with Impaired EBV Clearance', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S491 - S492, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100757&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Determining the Molecular Requirements for Generating Human T Follicular Helper (Tfh) Cells', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S458 - S459, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100688&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Dual Impairment of IL-17 and IFN-G Immunity Cause Infections by Candida and Mycobacterium in Humans with RORC Deficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S485 - S486, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies (ESID), CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100745&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Human CTLA4 Haploinsufficiency Causes Severe Immune Dysregulation', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S144 - S145, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Inherited IL-12R beta 2 Complete Deficiency Predisposes to BCG Disease and Tuberculosis', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S488 - S488, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100750&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Inherited IL-12R?2 Complete Deficiency Predisposes to BCG Disease and Tuberculosis', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S253 - S254, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100240&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Rare STAT1 GOF Mutation in Dna Binding Domain Causing Mild CMC', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S451 - S451, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100672&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'The Role of STAT3 in the Differentiation and Function of Unconventional T Cells', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, CZECH REPUBLIC, Prague, pp. S441 - S441, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, CZECH REPUBLIC, Prague, 29 October 2014 - 01 November 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100651&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'RARE STAT1 GOF MUTATION IN DNA BINDING DOMAIN CAUSING MILD CMC', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, pp. 5 - 5, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000342722800016&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'INHERITED HUMAN OX40 DEFICIENCY UNDERLYING CLASSIC KAPOSI SARCOMA OF CHILDHOOD', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, pp. 702 - 703, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000520232100025&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Beyond T, B, and NK Flow: An Extended Analytical Panel for the Flow Cytometric Evaluation of Primary Immune Deficiencies', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, MD, Baltimore, pp. 366 - 366, presented at Primary Immune Deficiency Diseases North American Conference of the Clinical-Immunology-Society (CIS), MD, Baltimore, 10 April 2014 - 13 April 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000336046800076&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Primary Immune Deficiencies Help to Reveal Molecular Requirements for Human T Follicular Helper Cells', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, MD, Baltimore, pp. 360 - 360, presented at Primary Immune Deficiency Diseases North American Conference of the Clinical-Immunology-Society (CIS), MD, Baltimore, 10 April 2014 - 13 April 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000336046800055&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'INHERITED HUMAN OX40 DEFICIENCY UNDERLYING CLASSIC KAPOSI SARCOMA OF CHILDHOOD', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, TURKEY, Antalya, pp. 702 - 703, presented at 100th J Project Meeting, TURKEY, Antalya, 12 March 2014 - 14 March 2014, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000341839800038&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2013, 'IL-27 signals to both B and T cells support germinal center function and the development of GC-driven lupus', in CYTOKINE, ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, CA, San Francisco, pp. 292 - 292, presented at Annual Joint Conference of the International-Cytokine-Society and the International-Society-for-Interferon-and-Cytokine-Research, CA, San Francisco, 29 September 2013 - 03 October 2013, http://dx.doi.org/10.1016/j.cyto.2013.06.210
,2012, 'A NEW PRIMARY IMMUNODEFICIENCY AFFECTING T CELLS IN A PATIENT WITH KAPOSI SARCOMA AND LEISHMANIASIS', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ITALY, Florence, pp. 384 - 384, presented at 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), ITALY, Florence, 03 October 2012 - 06 October 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308728900731&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2012, 'IL-2 ENHANCES THE EFFECTS OF IL-21 ON HUMORAL IMMUNE RESPONSES IN HUMANS', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ITALY, Florence, pp. 280 - 280, presented at 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), ITALY, Florence, 03 October 2012 - 06 October 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308728900572&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2012, 'PRIMARY IMMUNE DEFICIENCIES REVEAL THE ROLE OF STAT1 AND STAT3 IN THE ACTIVATION AND DIFFERENTIATION OF HUMAN CD8(+) T CELLS', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ITALY, Florence, pp. 311 - 312, presented at 15th Biennial Meeting European-Society-for-Immunodeficiency (ESID), ITALY, Florence, 03 October 2012 - 06 October 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308728900636&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2012, 'SP110 REGULATES NUCLEAR ORPHAN RECEPTOR NUR77-DRIVEN APOPTOSIS IN T CELLS', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, ITALY, Florence, pp. 20 - 21, presented at 15th Biennial Meeting of the European-Society-for-Primary-Immunodeficiency (ESID), ITALY, Florence, 03 October 2012 - 06 October 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000308728900036&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2008, 'High level EBV persistence in the IgM + IgD+CD27+B cell subset in patients with X-linked lymphoproliferative disease lacking isotype-switched memory B cells', in British Journal of Haematology, Blackwell Publishing Ltd, Oxford, England, pp. 19 - 20, presented at Abstracts of the British Society of Haematology 48th Annual Scientific Meeting, incorporating the 6th Bi-Annual I-BFM Leukaemia Symposium
,2007, 'High level EBV persistence in the IgM(+) IgD(+) CD27(+) B cell subset in patients with X-linked lymphoproliferative disease lacking isotype-switched memory B cells', in BLOOD, AMER SOC HEMATOLOGY, GA, Atlanta, pp. 675A - 675A, presented at 49th Annual Meeting of the American-Society-of-Hematology, GA, Atlanta, 08 December 2007 - 11 December 2007, http://dx.doi.org/10.1182/blood.V110.11.2276.2276
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